Q17* (p.Gln17Ter) variant of ITK (Tyrosine-protein kinase ITK/TSK)
Q17* (p.Gln17Ter) in ITK (Tyrosine-protein kinase ITK/TSK) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
Q17* (p.Gln17Ter) variant details
- p.Gln17Ter
- rs781686293
- ClinGen CA3532612
- ClinVar RCV001951266
- ExAC rs781686293
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available